Incidental Mutation 'R9648:Msh3'
| ID |
726891 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Msh3
|
| Ensembl Gene |
ENSMUSG00000014850 |
| Gene Name |
mutS homolog 3 |
| Synonyms |
Rep3, D13Em1, Rep-3 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.285)
|
| Stock # |
R9648 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
92348387-92491515 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 92478757 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 404
(V404A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140002
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022220]
[ENSMUST00000185852]
[ENSMUST00000187874]
[ENSMUST00000190393]
[ENSMUST00000191509]
[ENSMUST00000191550]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000022220
Gene: ENSMUSG00000014850
AA Change: V404A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
24 |
40 |
N/A |
INTRINSIC |
|
Pfam:MutS_I
|
188 |
301 |
1.6e-35 |
PFAM |
|
Pfam:MutS_II
|
324 |
481 |
2.2e-36 |
PFAM |
|
MUTSd
|
513 |
828 |
7.62e-97 |
SMART |
|
MUTSac
|
847 |
1049 |
9.7e-122 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185852
AA Change: V404A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000140002
Gene: ENSMUSG00000014850
AA Change: V404A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
24 |
40 |
N/A |
INTRINSIC |
|
Pfam:MutS_I
|
188 |
301 |
7.2e-35 |
PFAM |
|
Pfam:MutS_II
|
324 |
481 |
2.2e-36 |
PFAM |
|
MUTSd
|
513 |
828 |
7.62e-97 |
SMART |
|
MUTSac
|
847 |
1049 |
9.7e-122 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187874
|
| SMART Domains |
Protein: ENSMUSP00000139620
Gene: ENSMUSG00000014850
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
24 |
40 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190393
|
| SMART Domains |
Protein: ENSMUSP00000141163
Gene: ENSMUSG00000014850
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
24 |
40 |
N/A |
INTRINSIC |
|
Pfam:MutS_I
|
188 |
241 |
6.4e-10 |
PFAM |
|
low complexity region
|
261 |
285 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191509
|
| SMART Domains |
Protein: ENSMUSP00000141158
Gene: ENSMUSG00000014850
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
24 |
40 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191550
|
| SMART Domains |
Protein: ENSMUSP00000140659
Gene: ENSMUSG00000014850
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
24 |
40 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene forms a heterodimer with MSH2 to form MutS beta, part of the post-replicative DNA mismatch repair system. MutS beta initiates mismatch repair by binding to a mismatch and then forming a complex with MutL alpha heterodimer. This gene contains a polymorphic 9 bp tandem repeat sequence in the first exon. The repeat is present 6 times in the reference genome sequence and 3-7 repeats have been reported. Defects in this gene are a cause of susceptibility to endometrial cancer. [provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a partial defect mismatch repair and development of intestinal tumors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra2 |
G |
A |
8: 27,609,172 (GRCm39) |
V798M |
probably damaging |
Het |
| Adprhl1 |
A |
G |
8: 13,273,245 (GRCm39) |
L1171P |
probably benign |
Het |
| Atp2b2 |
C |
T |
6: 113,780,707 (GRCm39) |
|
probably null |
Het |
| Birc6 |
A |
T |
17: 74,938,696 (GRCm39) |
N2701Y |
probably damaging |
Het |
| Bptf |
A |
T |
11: 106,943,720 (GRCm39) |
N2720K |
probably damaging |
Het |
| Ccpg1 |
T |
C |
9: 72,919,312 (GRCm39) |
L309S |
probably damaging |
Het |
| Cep295 |
T |
C |
9: 15,234,903 (GRCm39) |
N2126S |
probably benign |
Het |
| Cln5 |
A |
G |
14: 103,313,734 (GRCm39) |
T329A |
probably benign |
Het |
| Cmas |
T |
A |
6: 142,716,935 (GRCm39) |
L276M |
probably benign |
Het |
| Cnbd1 |
A |
C |
4: 19,098,142 (GRCm39) |
|
probably null |
Het |
| Depdc1b |
A |
G |
13: 108,460,444 (GRCm39) |
N18S |
probably damaging |
Het |
| Dido1 |
C |
A |
2: 180,302,468 (GRCm39) |
R1812I |
probably damaging |
Het |
| Dnajc2 |
G |
A |
5: 21,968,478 (GRCm39) |
T403M |
probably damaging |
Het |
| Dnm1 |
T |
A |
2: 32,230,455 (GRCm39) |
I120F |
probably damaging |
Het |
| Egfl6 |
C |
T |
X: 165,319,235 (GRCm39) |
V379I |
probably benign |
Het |
| Foxa2 |
T |
A |
2: 147,887,799 (GRCm39) |
K12M |
probably damaging |
Het |
| Fut7 |
T |
A |
2: 25,315,336 (GRCm39) |
V198E |
probably damaging |
Het |
| Gramd1b |
A |
T |
9: 40,244,793 (GRCm39) |
V205E |
probably damaging |
Het |
| Gtf2i |
T |
A |
5: 134,284,770 (GRCm39) |
N510Y |
probably damaging |
Het |
| H2-M1 |
T |
C |
17: 36,982,248 (GRCm39) |
I118V |
probably benign |
Het |
| Icam1 |
T |
C |
9: 20,937,697 (GRCm39) |
F245L |
probably damaging |
Het |
| Ifna16 |
C |
T |
4: 88,595,060 (GRCm39) |
A12T |
probably benign |
Het |
| Il12rb2 |
T |
C |
6: 67,333,587 (GRCm39) |
T231A |
probably benign |
Het |
| Klrb1a |
T |
C |
6: 128,586,816 (GRCm39) |
|
probably null |
Het |
| Mc3r |
T |
C |
2: 172,091,639 (GRCm39) |
L287P |
probably damaging |
Het |
| Mme |
A |
T |
3: 63,208,426 (GRCm39) |
I63L |
probably benign |
Het |
| Myrf |
T |
A |
19: 10,188,010 (GRCm39) |
I896F |
possibly damaging |
Het |
| Nup205 |
T |
A |
6: 35,202,746 (GRCm39) |
Y1318N |
probably benign |
Het |
| Or2t47 |
A |
T |
11: 58,442,313 (GRCm39) |
Y251N |
probably damaging |
Het |
| Or7g17 |
T |
A |
9: 18,768,748 (GRCm39) |
S267T |
possibly damaging |
Het |
| Osbp |
T |
A |
19: 11,943,590 (GRCm39) |
W96R |
probably damaging |
Het |
| Pcf11 |
A |
G |
7: 92,307,318 (GRCm39) |
L950P |
probably damaging |
Het |
| Pcnt |
T |
C |
10: 76,190,089 (GRCm39) |
T2816A |
probably benign |
Het |
| Pde7a |
A |
G |
3: 19,310,966 (GRCm39) |
Y87H |
probably damaging |
Het |
| Pip4k2c |
T |
C |
10: 127,041,569 (GRCm39) |
H163R |
probably damaging |
Het |
| Pld1 |
T |
A |
3: 28,174,900 (GRCm39) |
L846Q |
probably damaging |
Het |
| Plppr2 |
T |
A |
9: 21,852,379 (GRCm39) |
S113T |
probably benign |
Het |
| Pms1 |
A |
T |
1: 53,314,284 (GRCm39) |
L87Q |
probably damaging |
Het |
| Rasa1 |
A |
G |
13: 85,436,690 (GRCm39) |
S113P |
possibly damaging |
Het |
| Rexo1 |
T |
A |
10: 80,385,540 (GRCm39) |
H506L |
probably damaging |
Het |
| Rps12 |
T |
C |
10: 23,662,777 (GRCm39) |
I6V |
probably benign |
Het |
| Rsph3a |
T |
C |
17: 8,171,395 (GRCm39) |
M170T |
probably benign |
Het |
| Rsrc2 |
A |
G |
5: 123,877,688 (GRCm39) |
S156P |
unknown |
Het |
| Rtp3 |
T |
C |
9: 110,815,586 (GRCm39) |
T260A |
probably benign |
Het |
| Sall2 |
A |
G |
14: 52,551,224 (GRCm39) |
F657S |
probably damaging |
Het |
| Serpind1 |
T |
A |
16: 17,154,318 (GRCm39) |
N48K |
probably benign |
Het |
| Slc38a11 |
T |
A |
2: 65,188,484 (GRCm39) |
D95V |
probably benign |
Het |
| Slc5a4a |
T |
C |
10: 76,002,608 (GRCm39) |
C255R |
probably damaging |
Het |
| Slc6a12 |
C |
A |
6: 121,335,661 (GRCm39) |
Y330* |
probably null |
Het |
| Slco1b2 |
T |
C |
6: 141,602,655 (GRCm39) |
Y203H |
possibly damaging |
Het |
| Spdye4a |
C |
T |
5: 143,210,848 (GRCm39) |
R74K |
probably benign |
Het |
| Stab2 |
ACC |
AC |
10: 86,692,561 (GRCm39) |
|
probably null |
Het |
| Stat1 |
A |
T |
1: 52,165,695 (GRCm39) |
D97V |
probably damaging |
Het |
| Stk11ip |
A |
G |
1: 75,505,585 (GRCm39) |
E418G |
probably damaging |
Het |
| Tcf20 |
T |
C |
15: 82,739,876 (GRCm39) |
D525G |
probably damaging |
Het |
| Tcstv7b |
C |
T |
13: 120,702,495 (GRCm39) |
P97L |
possibly damaging |
Het |
| Tlr2 |
A |
T |
3: 83,745,840 (GRCm39) |
L81Q |
probably damaging |
Het |
| Tmt1a3 |
C |
T |
15: 100,232,857 (GRCm39) |
A16V |
probably benign |
Het |
| Trim50 |
T |
A |
5: 135,395,475 (GRCm39) |
I277N |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,619,806 (GRCm39) |
Q15954L |
probably benign |
Het |
| Unc13d |
AATGCCTCCCATGCC |
AATGCCTCCCATGCCTCCCATGCC |
11: 115,958,998 (GRCm39) |
|
probably benign |
Het |
| Wdr43 |
A |
G |
17: 71,960,494 (GRCm39) |
K592R |
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,346,599 (GRCm39) |
I2947V |
probably benign |
Het |
| Zan |
A |
C |
5: 137,405,992 (GRCm39) |
F3746V |
unknown |
Het |
| Zfp418 |
G |
A |
7: 7,185,171 (GRCm39) |
S378N |
probably benign |
Het |
| Zfp518b |
C |
G |
5: 38,830,240 (GRCm39) |
Q588H |
probably damaging |
Het |
| Zfp959 |
G |
A |
17: 56,204,212 (GRCm39) |
R83K |
possibly damaging |
Het |
| Znrf3 |
G |
A |
11: 5,231,915 (GRCm39) |
R437C |
probably damaging |
Het |
|
| Other mutations in Msh3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00895:Msh3
|
APN |
13 |
92,481,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00983:Msh3
|
APN |
13 |
92,436,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01490:Msh3
|
APN |
13 |
92,436,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02072:Msh3
|
APN |
13 |
92,436,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02313:Msh3
|
APN |
13 |
92,485,820 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02711:Msh3
|
APN |
13 |
92,487,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03108:Msh3
|
APN |
13 |
92,357,596 (GRCm39) |
splice site |
probably benign |
|
|
IGL03227:Msh3
|
APN |
13 |
92,422,468 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0164:Msh3
|
UTSW |
13 |
92,485,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0164:Msh3
|
UTSW |
13 |
92,485,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0415:Msh3
|
UTSW |
13 |
92,483,294 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0457:Msh3
|
UTSW |
13 |
92,357,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0659:Msh3
|
UTSW |
13 |
92,481,604 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0661:Msh3
|
UTSW |
13 |
92,481,604 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0686:Msh3
|
UTSW |
13 |
92,487,939 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0688:Msh3
|
UTSW |
13 |
92,487,939 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0707:Msh3
|
UTSW |
13 |
92,483,848 (GRCm39) |
nonsense |
probably null |
|
|
R1605:Msh3
|
UTSW |
13 |
92,436,783 (GRCm39) |
missense |
probably null |
1.00 |
|
R1622:Msh3
|
UTSW |
13 |
92,481,462 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1771:Msh3
|
UTSW |
13 |
92,349,004 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1970:Msh3
|
UTSW |
13 |
92,386,328 (GRCm39) |
splice site |
probably benign |
|
|
R1971:Msh3
|
UTSW |
13 |
92,386,328 (GRCm39) |
splice site |
probably benign |
|
|
R1971:Msh3
|
UTSW |
13 |
92,359,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2894:Msh3
|
UTSW |
13 |
92,478,868 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3837:Msh3
|
UTSW |
13 |
92,491,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4119:Msh3
|
UTSW |
13 |
92,490,519 (GRCm39) |
intron |
probably benign |
|
|
R4225:Msh3
|
UTSW |
13 |
92,422,431 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4881:Msh3
|
UTSW |
13 |
92,402,549 (GRCm39) |
intron |
probably benign |
|
|
R5118:Msh3
|
UTSW |
13 |
92,445,942 (GRCm39) |
splice site |
probably benign |
|
|
R5209:Msh3
|
UTSW |
13 |
92,481,462 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5817:Msh3
|
UTSW |
13 |
92,422,508 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5849:Msh3
|
UTSW |
13 |
92,386,386 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5851:Msh3
|
UTSW |
13 |
92,352,030 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5940:Msh3
|
UTSW |
13 |
92,386,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6004:Msh3
|
UTSW |
13 |
92,478,922 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6363:Msh3
|
UTSW |
13 |
92,349,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6510:Msh3
|
UTSW |
13 |
92,489,772 (GRCm39) |
nonsense |
probably null |
|
|
R6654:Msh3
|
UTSW |
13 |
92,481,550 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6853:Msh3
|
UTSW |
13 |
92,449,080 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7022:Msh3
|
UTSW |
13 |
92,372,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7098:Msh3
|
UTSW |
13 |
92,410,619 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7103:Msh3
|
UTSW |
13 |
92,411,308 (GRCm39) |
missense |
probably benign |
|
|
R7148:Msh3
|
UTSW |
13 |
92,491,330 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7171:Msh3
|
UTSW |
13 |
92,485,806 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7317:Msh3
|
UTSW |
13 |
92,422,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7369:Msh3
|
UTSW |
13 |
92,435,770 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7586:Msh3
|
UTSW |
13 |
92,485,840 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R7641:Msh3
|
UTSW |
13 |
92,349,011 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7648:Msh3
|
UTSW |
13 |
92,410,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7674:Msh3
|
UTSW |
13 |
92,349,011 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8125:Msh3
|
UTSW |
13 |
92,435,690 (GRCm39) |
missense |
probably benign |
|
|
R8252:Msh3
|
UTSW |
13 |
92,357,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8388:Msh3
|
UTSW |
13 |
92,359,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8442:Msh3
|
UTSW |
13 |
92,349,020 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8735:Msh3
|
UTSW |
13 |
92,411,374 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8986:Msh3
|
UTSW |
13 |
92,483,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9264:Msh3
|
UTSW |
13 |
92,485,812 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9326:Msh3
|
UTSW |
13 |
92,400,307 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9457:Msh3
|
UTSW |
13 |
92,481,594 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9459:Msh3
|
UTSW |
13 |
92,352,047 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
S24628:Msh3
|
UTSW |
13 |
92,483,294 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
X0027:Msh3
|
UTSW |
13 |
92,410,578 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0063:Msh3
|
UTSW |
13 |
92,411,293 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAGAGAAACTCGCAGCAC -3'
(R):5'- GCTTACTGTTGCTTCCAGGGAG -3'
Sequencing Primer
(F):5'- AATCTCTGTGAGTCCAAGGC -3'
(R):5'- TGCTTCCAGGGAGTGCAG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation